Trisomies The Early Neonatal Period 20th Annual CARIS Meeting Maha Mansour Neonatal Unit Singleton Hospital

Outline The 3 known human trisomies with main focus on T21 focus on early life Acknowledge personal experience parents in the audience as clinicians

Trisomy 21 Down Sx

First impressions Initial ‘suspicions’ (antenatal / postnatal) Clinical diagnosis “group of concurrent medical observations” Face & head Hypotonia Hands & feet Genetics First interactions with parents

Time with Parents Impossible to predict future strengths & weaknesses of any baby Babies learn best when parents less stressed  empower parents  spend time with baby  point out the strengths Peer support

Information for Parents

Early ‘medical’ issues Feeding Poor suck Frequent respiratory infections Congenital heart disease Aprox 40% of babies with T21 (vs. 1%) L to R shunts – AVSD, ASD, VSD, PDA PPHN * Haematology

Rx considerations in first year Feeding (& growth) CHD Early intervention Specialist H.V. Early MDT: OT, PT, SLT, playgroups Early liaising with education

Screening in first year Vision Mypoia – up to 70% Nystagmus – up to 35% Strabismus – up to 45% Hearing Frequent ear infections – up to 80% Vital for speech Thyroid dx in 10%

Milestones Down age range Typical age range Sits alone 6 – 30 months Crawls 8 – 22 months 6 – 12 months Stands 1 – 3.5 years 8 – 17 months Walks alone 1 – 4 years 9 – 18 months First word 8 – 23 months Two-word phrases 2 – 7.5 years 15 – 32 months Responsive smile 1.5 – 5 months 1 – 2 months Finger feeds 10 – 24 months 7 – 14 months Drinks from cup 12 – 32 months 9 – 17 months Bowel control 2 – 7 years 16 – 42 months Dresses self 3.5 – 8.5 years 3.5 – 5 years

Trisomy 18 Edward Sx

T 18 1: 6,000 live births 92% antenatal detection F:M = 4:1 ↑ incidence with ↑ maternal age 5 – 10% survive 1st yr 55% die within 1st week

General ↓ fetal movements, often premature Low bt wt, hypoplasia of skeletal muscle & subcut tissue Hypertonic after neonatal period Craniofacial Wide fontanels, prominent occiput, microcephaly Low-set, malformed ears, ptosis Micrognathia, cleft lip/palate Cardiac VSD, ASD, PDA, Bicuspid AV, Coarct Hands & Feet Clenched hand, overlapping index finger over 3rd & 5th over 4th finger ‘Rocker bottom’ feet Syndactyly 2nd & 3rd toes, 3rd & 4th fingers, palmar crease, dermatoglyphics Torso Short sternum, small widely-spaced nipples Diastasis recti, umbilical / inguinal hernia Skin Redundant skin Hirsutism of forehead & back Genitourinary Cryptorchidism, hypoplasia labia, with prominent clitoris Horseshoe kidney, ectopic kidney, polycystic

Trisomy 13 Patau Sx

T 13 1st described in 1657 by Bartholin Incidence 1:10,000 to 20,000 live births Median survival 2 weeks

Central Nervous System Holoprosencephaly type defects Seizures, v severe learning disability, deafness Craniofacial Microcephaly, wide fontanels Microphthalmia, coloboma of iris, retinal dysplasia Cleft lip / palate, micrognathia, absent philtrum, low-set ears Skin Capillary haemangiomata, esp. forehead Localised scalp defects in parieto-occipital area Hands & Feet Dermatoglyphics (distal palmar axial triradius) Narrow, hyper convex nails & flexed, overlapping fingers Polydactyly Cardiac In 80% VSD, PDA, ASD, TAPVD

Trisomies Very heterogeneous group T 21 – bright beginnings Inform & support parents Screen & treat accordingly Early intervention T 18 & T 13 Consider early involvement of palliative care team